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1.
Front Immunol ; 15: 1337799, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38571950

RESUMO

Generalized Pustular Psoriasis (GPP) is a dermatological autoinflammatory disease that rarely occurs in children and is associated with complex genetic factors. GPP pathogenesis has been associated with mutations in IL36RN gene, which encodes an interleukin-36 receptor antagonist. GPP usually occurs without a history of psoriasis in the patients or their family members. This case report describes the clinical course of a 3-year-old toddler with GPP. The diagnosis of GPP was confirmed through a comprehensive series of examinations, and genetic testing revealed an IL36RN mutation, providing further insight into the genetic basis of the condition. This case highlights the importance of a genetic perspective for diagnosing GPP, particularly in children.


Assuntos
Psoríase , Dermatopatias Vesiculobolhosas , Humanos , Pré-Escolar , Interleucinas/genética , Psoríase/diagnóstico , Psoríase/genética , Psoríase/patologia , Mutação , Testes Genéticos , Doença Aguda , Doença Crônica , Dermatopatias Vesiculobolhosas/genética
2.
Front Pediatr ; 10: 865441, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-35592844

RESUMO

Background: Numerous studies worldwide have reported COVID-19 in children; however, the clinical symptoms and consequences of COVID-19 in children have only been reported in a few studies in Saudi and gulf region. Therefore, we aimed to investigate the clinical features and outcomes of COVID-19 infection in children and the therapeutic interventions used. Methods: This retrospective cohort study included 96 patients with confirmed severe acute respiratory syndrome coronavirus 2 infection aged ≤14 years who were admitted to a tertiary governmental care hospital in Riyadh, Saudi Arabia between March 2020 and November 2020. Data on children with COVID-19, including demographics, comorbidities, symptoms, imaging and laboratory results, therapies, and clinical outcomes, were analyzed. Results: Of 96 children admitted with a confirmed diagnosis of COVID-19, 63.8% were aged ≤ 3 years, 52.1% were male, 56.2% had an unknown source of infection, and 51% had no comorbidities. Most cases had severe infection (71.88%) as they required oxygen, 10.42% of whom were critical. The most common symptoms were respiratory-related (98%), and the common physical sign was fever (49%). High D-dimer (90.7%) and C-reactive protein (72.09%) levels were found in most cases. Oxygen (71.88%) was the most commonly used treatment. Most patients were discharged home and fully recovered (97.92%). We reported two deaths (2.08%). Conclusions: Our findings showed that the majority of the admitted children with COVID-19 were ≤3 years of age (52.1%) and infected with an unknown source (56.2%). Moreover, the majority of the cases had severe COVID-19 infection as they required oxygen (71.88%), although they had favorable outcomes. However, some cases were critical and resulted in death. Future studies will be crucial to better understand the disease spectrum and potential therapeutic options for COVID-19 in children.

3.
BMC Nephrol ; 21(1): 400, 2020 09 16.
Artigo em Inglês | MEDLINE | ID: mdl-32938414

RESUMO

BACKGROUND: Fungal peritonitis (FP) is an infrequent but serious complication in children undergoing peritoneal dialysis (PD). This study aimed to explore the risk factors, clinical manifestations, causative organisms, fungal susceptibility findings, and outcomes of FP in children from Saudi Arabia. METHODS: In this case-control study, the medical records and laboratory results of paediatric patients aged 0-14 years who underwent PD were reviewed for FP episodes. All FP episodes were matched with PD-related bacterial peritonitis episodes (1:4 ratio). RESULTS: A total of 194 episodes of PD-related peritonitis occurred between 2007 and 2017, among which 11 were FP episodes (5.6%), representing a rate of 0.03 episodes per patient-year. Of these 11 episodes, 9 were caused by Candida species (82%). Compared with the bacterial peritonitis group, the FP group had a higher proportion of patients with congenital/infantile nephrotic syndrome (p = 0.005) and those younger than 5 years of age (p = 0.001). We observed a higher rate of catheter removal in the FP group than in the bacterial peritonitis group (p <  0.001); however, 1 patient died despite catheter removal. Moreover, 75% of Candida species isolates were susceptible to fluconazole. CONCLUSIONS: This study revealed that FP is associated with a significant risk of peritoneal membrane failure among children undergoing PD. Therefore, early diagnosis and prompt management are essential. We also found that congenital/infantile nephrotic syndrome and young age (5 years old or younger) were risk factors for FP in children undergoing PD.


Assuntos
Aspergilose/epidemiologia , Candidíase/epidemiologia , Falência Renal Crônica/terapia , Síndrome Nefrótica/epidemiologia , Diálise Peritoneal , Peritonite/epidemiologia , Adolescente , Fatores Etários , Antifúngicos/uso terapêutico , Aspergilose/diagnóstico , Aspergilose/tratamento farmacológico , Infecções Bacterianas/epidemiologia , Candidíase/diagnóstico , Candidíase/tratamento farmacológico , Candidíase/microbiologia , Criança , Pré-Escolar , Feminino , Humanos , Lactente , Recém-Nascido , Falência Renal Crônica/epidemiologia , Masculino , Micoses/diagnóstico , Micoses/tratamento farmacológico , Micoses/epidemiologia , Micoses/microbiologia , Peritonite/diagnóstico , Peritonite/tratamento farmacológico , Peritonite/microbiologia , Fatores de Risco , Arábia Saudita/epidemiologia , Centros de Atenção Terciária
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